Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency


Huemer M., Carvalho D. R. , Brum J. M. , Unal Ö. , COŞKUN T., Weisfeld-Adams J. D. , ...Daha Fazla

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.39, sa.3, ss.331-340, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s10545-016-9928-y
  • Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
  • Sayfa Sayıları: ss.331-340

Özet

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.